A 26-Year-Old Woman Who Uses a Walking Cane Because of Pain

Ricardo Correa, MD; Gauri Behari, MD


September 13, 2019

In summary, hypophosphatasia is a multisystemic disease with deleterious effects that can appear at different ages and progress over time. In adults, the symptoms of hypophosphatasia are often misdiagnosed and confused with those of other more common bone or rheumatologic diseases, leading to delayed diagnosis and inappropriate treatment. Incorrect treatments, such as high-dose vitamin D, excessive calcium supplementation, and bisphosphonates, may worsen symptoms.[6] Patients who present with abnormal bone features should have their ALP and vitamin B6 levels assessed to rule out this diagnosis.

This patient was started on ALP replacement (asfotase alfa) at 40 mg subcutaneously 6 times per week. After 6 months, her pain resolved. She has not had any additional fractures.


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